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Parental imprinting and the type of the genetic alteration play a determinant role in the phenotype expression of GNAS locus associated to pseudohypoparathyroidism (PHP). GNAS locus gives rise to several different messenger RNA transcripts that are derived from the paternal allele, the maternal ...
Primary hyperparathyroidism (PHPT) and vitamin D (VD) deficiency are frequent conditions due to the widespread application of assays for calcium and VD. PHPT presentation is dominated by diversity in its expression and the current predominance of asymptomatic forms. VD, which plays a major role ...
Parathyroid carcinoma is a malignant neoplasm affecting 0.5 to 5.0% of all patients suffering from primary hyperparathyroidism. This cancer continues to cause challenges for diagnosis and treatment because of its rarity, overlapping features with benign parathyroid disease, and lack of distinct ...
Calcifications in the kidneys may occur in the parenchyma (nephrocalcinosis), pelvis renis (nephrolithiasis) or ureters (ureterolithiasis). Several factors may protect against stone formation or promote precipitation of stones. Most stones contain calcium, and the hypercalciuria seen in primary ...
The aim of this article is to discuss the diagnostic approach of an increased serum PTH concentration in a normocalcemic, normophosphatemic patient. Detection of this biological presentation is frequent in routine practice all the more that PTH reference values established in vitamin D replete s...
Primary hyperparathyroidism is common, with epidemiological studies suggesting it may effect up to 1% of the population, and up to 3% of post-menopausal females. Many cases are diagnosed incidentally on routine blood sampling, with the majority of patients being seemingly asymptomatic at diagnos...
Parathyroid hormone (PTH) is the primary regulator of blood calcium levels and bone metabolism. Insufficient levels of PTH lead to hypoparathyroidism, characterized by low serum calcium and elevated serum phosphate levels. It is most commonly caused by the inadvertent damage to the parathyroid g...